Canonical Allele Identifier: CA1706733
Community Standard Title: NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71600804G>T , CM000664.2:g.71600804G>T GRCh38
NC_000002.11:g.71827934G>T , CM000664.1:g.71827934G>T GRCh37
NC_000002.10:g.71681442G>T NCBI36
NG_008694.1:g.152182G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.3859G>T MANE Select NP_001124459.1:p.Glu1287Ter
ENST00000410020.8:c.3859G>T MANE Select ENSP00000386881.3:p.Glu1287Ter
NM_003494.4:c.3805G>T MANE Plus Clinical NP_003485.1:p.Glu1269Ter
ENST00000258104.8:c.3805G>T MANE Plus Clinical ENSP00000258104.3:p.Glu1269Ter
NM_001130455.1:c.3808G>T NP_001123927.1:p.Glu1270Ter
NM_001130455.2:c.3808G>T NP_001123927.1:p.Glu1270Ter
NM_001130976.1:c.3763G>T NP_001124448.1:p.Glu1255Ter
NM_001130976.2:c.3763G>T NP_001124448.1:p.Glu1255Ter
NM_001130977.1:c.3763G>T NP_001124449.1:p.Glu1255Ter
NM_001130977.2:c.3763G>T NP_001124449.1:p.Glu1255Ter
NM_001130978.1:c.3805G>T NP_001124450.1:p.Glu1269Ter
NM_001130978.2:c.3805G>T NP_001124450.1:p.Glu1269Ter
NM_001130979.1:c.3898G>T NP_001124451.1:p.Glu1300Ter
NM_001130979.2:c.3898G>T NP_001124451.1:p.Glu1300Ter
NM_001130980.1:c.3856G>T NP_001124452.1:p.Glu1286Ter
NM_001130980.2:c.3856G>T NP_001124452.1:p.Glu1286Ter
NM_001130981.1:c.3856G>T NP_001124453.1:p.Glu1286Ter
NM_001130981.2:c.3856G>T NP_001124453.1:p.Glu1286Ter
NM_001130982.1:c.3901G>T NP_001124454.1:p.Glu1301Ter
NM_001130982.2:c.3901G>T NP_001124454.1:p.Glu1301Ter
NM_001130983.1:c.3808G>T NP_001124455.1:p.Glu1270Ter
NM_001130983.2:c.3808G>T NP_001124455.1:p.Glu1270Ter
NM_001130984.1:c.3766G>T NP_001124456.1:p.Glu1256Ter
NM_001130984.2:c.3766G>T NP_001124456.1:p.Glu1256Ter
NM_001130985.1:c.3859G>T NP_001124457.1:p.Glu1287Ter
NM_001130985.2:c.3859G>T NP_001124457.1:p.Glu1287Ter
NM_001130986.1:c.3766G>T NP_001124458.1:p.Glu1256Ter
NM_001130986.2:c.3766G>T NP_001124458.1:p.Glu1256Ter
NM_001130987.1:c.3859G>T NP_001124459.1:p.Glu1287Ter
NM_003494.3:c.3805G>T NP_003485.1:p.Glu1269Ter
ENST00000258104.7:c.3805G>T ENSP00000258104.3:p.Glu1269Ter
ENST00000394120.6:c.3808G>T ENSP00000377678.2:p.Glu1270Ter
ENST00000409366.5:c.3808G>T ENSP00000386512.1:p.Glu1270Ter
ENST00000409582.7:c.3856G>T ENSP00000386547.3:p.Glu1286Ter
ENST00000409651.5:c.3901G>T ENSP00000386683.1:p.Glu1301Ter
ENST00000409744.5:c.3766G>T ENSP00000386285.1:p.Glu1256Ter
ENST00000409762.5:c.3856G>T ENSP00000387137.1:p.Glu1286Ter
ENST00000410020.7:c.3859G>T ENSP00000386881.3:p.Glu1287Ter
ENST00000410041.1:c.3859G>T ENSP00000386617.1:p.Glu1287Ter
ENST00000413539.6:c.3898G>T ENSP00000407046.2:p.Glu1300Ter
ENST00000429174.6:c.3805G>T ENSP00000398305.2:p.Glu1269Ter
ENST00000475076.5:n.633G>T
ENST00000479049.6:n.690G>T
ENST00000493767.1:n.526G>T
ENST00000698057.1:c.1231G>T ENSP00000513536.1:p.Glu411Ter
ENST00000698058.1:c.448G>T ENSP00000513537.1:p.Glu150Ter
ENST00000698059.1:c.448G>T ENSP00000513538.1:p.Glu150Ter
XM_005264584.3:c.3901G>T XP_005264641.1:p.Glu1301Ter
XM_005264584.4:c.3901G>T XP_005264641.1:p.Glu1301Ter
XM_005264585.3:c.3898G>T XP_005264642.1:p.Glu1300Ter
XM_005264585.5:c.3898G>T XP_005264642.1:p.Glu1300Ter
XR_001738969.1:n.4059G>T